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rs1060501498

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1060501498(C;C)
Make rs1060501498(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position177267691
GeneNSD1
is asnp
is mentioned by
dbSNPrs1060501498
dbSNP (old)rs1060501498
ClinGenrs1060501498
ebirs1060501498
HLIrs1060501498
Exacrs1060501498
Gnomadrs1060501498
Varsomers1060501498
Maprs1060501498
PheGenIrs1060501498
Biobankrs1060501498
1000 genomesrs1060501498
hgdprs1060501498
ensemblrs1060501498
gopubmedrs1060501498
geneviewrs1060501498
scholarrs1060501498
googlers1060501498
pharmgkbrs1060501498
gwascentralrs1060501498
openSNPrs1060501498
23andMers1060501498
23andMe allrs1060501498
SNPshotrs1060501498
SNPdbers1060501498
MSV3drs1060501498
GWAS Ctlgrs1060501498
Max Magnitude0
ClinVar
Risk rs1060501498(C;C)
Alt rs1060501498(C;C)
Reference Rs1060501498(T;T)
Significance Probable-Pathogenic
Disease Beckwith-Wiedemann syndrome
Variation info
Gene NSD1
CLNDBN Beckwith-Wiedemann syndrome
Reversed 0
HGVS NC_000005.9:g.176694692T>C
CLNSRC
CLNACC RCV000475915.1,